A suite of formerly untreatable, progressively blinding retinal diseases may now be halted or even reversed, thanks to FDA approval of the gene therapy agent, Luxturna. The announcement marks the first U.S. approval of a gene therapy for an inherited disease.
Developed by Spark Therapeutics, Luxturna (voretigene neparvovec-rzyl) utilizes an AAV2 viral vector to replace mutated copies of the RPE65 gene. Defects in this gene lead to several types of autosomal recessive retinal dystrophies, including subtypes of retinitis pigmentosa and Leber congenital amaurosis.
Though monumental, the official statement has been anticipated since early summer, when results from a highly successful phase 3 trial were published in The Lancet. The data demonstrated that a one-time subretinal injection of Luxturna induced substantial gains in the light perception ability of both pediatric and adult patients with biallelic RPE65 mutations. The improvements were stable for up to 3 years.
After reviewing Spark’s new drug application, the FDA’s Cellular, Tissue and Gene Therapies Advisory Committee unanimously voted to recommend Luxturna’s approval at a hearing on October 12.
“FDA approval of Luxturna represents a true paradigm shift for physicians caring for patients with hereditary retinal disease caused by biallelic RPE65 mutations, who up until now have had no pharmacologic treatment options,” said Alex V. Levin, MD, chief of the Wills Eye Pediatric Ophthalmology and Ocular Genetics Service. “Now is the time for patients who have hereditary retinal disease, but lack a confirmed genetic diagnosis, to undergo genetic testing to determine, where appropriate, if mutations in the RPE65 gene are responsible for their disease, and whether Luxturna may be an appropriate treatment option.”
According to Reuters, a Spark spokesperson stated that pricing will be disclosed in January 2018, and the product is expected to be commercially available soon after.